Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Disease data Classification Disease Synonyms CID due to RAG 1/2 deficiency CID z powodu niedoboru RAG 1/2 Złożony Niedobór odporności z powodu niedoboru RAG 1/2 Combined immunodeficiency due to RAG 1/2 deficiency ORPHA code 157949 OMIM code 233650 ICD10 code D81.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl